"Ambry Genetics"[submitter] AND "TRIM39-RPP21"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593543	NM_001369521.2(TRIM39):c.804-232A>C	TRIM39, TRIM39-RPP21 (N269H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2293761	NM_001369521.2(TRIM39):c.804-226C>T	TRIM39-RPP21, TRIM39 (P271S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2339535	NM_001369521.2(TRIM39):c.804-187C>T	LOC126859643, TRIM39 +1 more (R284W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535979	NM_001369521.2(TRIM39):c.1150G>A (p.Val384Met)	TRIM39, TRIM39-RPP21 (V384M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317468	NM_001369521.2(TRIM39):c.1340G>A (p.Arg447His)	TRIM39-RPP21, TRIM39 (R447H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284796	NM_001369521.2(TRIM39):c.1441A>G (p.Ile481Val)	TRIM39, TRIM39-RPP21 (I481V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462158	NM_024839.4(RPP21):c.159-10C>T	RPP21, TRIM39-RPP21 (S58F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar